E56G (p.Glu56Gly) variant of NPPB (Natriuretic peptides B)
E56G (p.Glu56Gly) in NPPB (Natriuretic peptides B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E56G (p.Glu56Gly) variant details
- p.Glu56Gly
- gnomAD 1-11858435-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.07
- CADD 21.60
- PolyPhen-2 0.54
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available